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Inflammation in maple syrup urine disease.

Ana Kalise Böttcher¹, Luísa Tedesco¹, Bianca Gomes Dos Reis²

¹Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003, Porto Alegre, RS, Brazil.

Clinica Chimica Acta; International Journal of Clinical Chemistry

|December 2, 2025

Summary

Maple syrup urine disease (MSUD) involves a deficiency in branched-chain alpha-keto acid dehydrogenase (BCKAD), leading to harmful buildup of amino acids. High levels of these amino acids trigger inflammation, potentially contributing to MSUD

Keywords:

Essential branched-chain amino acids Inborn errors of metabolism Inflammation Maple syrup urine disease

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Area of Science:

Biochemistry
Metabolic Disorders
Neuroinflammation

Background:

Maple syrup urine disease (MSUD), or leucinosis, is a rare inherited metabolic disorder.
It stems from a deficiency in the mitochondrial branched-chain alpha-keto acid dehydrogenase (BCKAD) enzyme complex.
This deficiency impairs the metabolism of essential branched-chain amino acids (BCAAs): isoleucine, leucine, and valine.

Purpose of the Study:

To review existing data on inflammation in MSUD.
To explore potential pathophysiological links between inflammation and MSUD.
To discuss the role of inflammation in MSUD progression.

Main Methods:

Review of available scientific literature and data.
Analysis of inflammatory markers in MSUD patients, cells, and animal models.
Examination of cytokine profiles and cell adhesion molecule expression.

Main Results:

Elevated levels of BCAAs in MSUD alter inflammatory marker expression.
Increased pro-inflammatory cytokines (IL-1β, IL-6, TNF-α, IFN-γ) observed in brain regions.
Suppressed anti-inflammatory responses (IL-10) and increased cell adhesion molecules (sICAM-1, sVCAM-1) and RAGE noted.

Conclusions:

Inflammation appears to be a significant factor in MSUD pathophysiology.
Altered inflammatory balance may contribute to neurodegeneration in MSUD.
Further research is crucial to link inflammation, neurodegeneration, and clinical outcomes in MSUD.